Q8N3S3
PR
Gene name |
PHTF2 |
Protein name |
Protein PHTF2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57157 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8N3S3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N3S3-F1 | Predicted | AlphaFoldDB |
436 variants for Q8N3S3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs753342671 CA4312741 |
4 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1262209566 CA367840919 |
5 | V>I | No |
ClinGen gnomAD |
|
|
CA4312742 rs533504487 |
6 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 8 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1132940 rs778356622 CA4312743 |
9 | I>V | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4312744 rs746375142 |
10 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193530639 CA367840969 |
12 | Y>C | No |
ClinGen gnomAD |
|
|
CA4312745 rs772507443 |
14 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 14 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA161011715 rs747429752 |
52 | A>V | No |
ClinGen Ensembl |
|
|
rs1454030274 CA367838141 |
53 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752053086 CA367838181 |
56 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 56 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202166525 CA4312786 |
57 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367838288 rs1308070049 |
61 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA161011719 rs905128698 |
64 | Q>E | No |
ClinGen Ensembl |
|
|
rs1201992373 CA367838363 |
65 | R>K | No |
ClinGen gnomAD |
|
|
rs748500147 CA4312788 |
67 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756318244 CA4312789 |
68 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA367838405 rs1205594001 |
68 | K>M | No |
ClinGen gnomAD |
|
|
CA367838407 rs1205594001 |
68 | K>R | No |
ClinGen gnomAD |
|
|
CA367838466 rs1312693580 |
70 | I>V | No |
ClinGen gnomAD |
|
|
CA161013044 rs926426328 |
75 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4312824 rs767952992 |
76 | N>S | No |
ClinGen ExAC |
|
|
CA367838567 rs1384543358 |
78 | P>R | No |
ClinGen gnomAD |
|
|
CA4312825 rs753149491 |
81 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4312826 rs761302249 |
84 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs754270411 CA4312829 |
91 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA367838652 rs754270411 |
91 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1285681408 CA367838666 |
93 | L>V | No |
ClinGen gnomAD |
|
|
CA4312831 rs779302221 |
94 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367838829 rs1267049300 |
116 | I>V | No |
ClinGen gnomAD |
|
|
rs1176961960 CA367838848 |
119 | V>I | No |
ClinGen gnomAD |
|
|
CA4312848 rs754105288 |
122 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs189124757 CA4312852 |
127 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs189124757 CA4312851 |
127 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4312849 rs534841738 |
127 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4312854 rs751697457 |
131 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs368625485 CA4312855 |
133 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 135 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4312856 rs777786150 |
136 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367838962 rs1403949847 |
136 | V>I | No |
ClinGen gnomAD |
|
|
rs1224561138 CA367838968 |
137 | I>V | No |
ClinGen gnomAD |
|
|
rs1251265669 CA367838974 |
138 | F>I | No |
ClinGen gnomAD |
|
|
rs1251265669 CA367838976 |
138 | F>V | No |
ClinGen gnomAD |
|
|
CA367838983 rs1343421624 |
139 | F>L | No |
ClinGen gnomAD |
|
|
rs1207741157 CA367838986 |
139 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372722905 CA4312857 |
140 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367838998 rs1191972064 |
141 | L>I | No |
ClinGen gnomAD |
|
|
rs1269613977 CA367839018 |
144 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367839074 rs1451166091 |
150 | A>V | No |
ClinGen gnomAD |
|
|
rs763870384 CA4312874 |
152 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1319368459 CA367839082 |
152 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367839093 rs1437956156 |
154 | L>V | No |
ClinGen gnomAD |
|
|
CA367839126 rs1382634557 |
158 | T>I | No |
ClinGen gnomAD |
|
|
rs757234620 CA4312876 |
159 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs201800333 CA161014698 |
160 | S>R | No |
ClinGen gnomAD |
|
|
CA367839148 rs1268903014 |
162 | H>Y | No |
ClinGen gnomAD |
|
|
rs745695610 CA4312878 |
163 | S>G | No |
ClinGen ExAC |
|
|
CA4312879 rs375153750 |
164 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461257851 CA367839170 |
165 | P>H | No |
ClinGen TOPMed |
|
|
rs779772271 CA4312880 |
166 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241212618 CA367839192 |
169 | V>L | No |
ClinGen gnomAD |
|
|
CA161014705 rs1055069995 |
170 | I>F | No |
ClinGen gnomAD |
|
|
rs1178820355 CA367839199 |
170 | I>T | No |
ClinGen TOPMed |
|
|
rs746439940 CA4312881 |
172 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776342579 CA4312883 |
176 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458383537 CA367839277 |
182 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766452002 CA4312888 |
183 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763396047 CA4312887 |
183 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774635847 CA4312889 |
190 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367839355 rs1337801877 |
194 | P>R | No |
ClinGen TOPMed |
|
|
CA161014719 rs200528794 |
195 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200528794 CA4312890 |
195 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4312892 rs764129651 |
196 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs757146800 CA4312893 |
197 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA367839368 rs757146800 |
197 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4312895 rs750163685 |
198 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4312896 rs758219535 |
199 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA161014731 rs904639352 |
199 | G>R | No |
ClinGen Ensembl |
|
|
CA4312897 rs779783072 |
200 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA161014736 rs967210265 |
204 | R>T | No |
ClinGen TOPMed |
|
| TCGA novel | 205 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367839471 rs1236491891 |
211 | H>R | No |
ClinGen TOPMed |
|
|
CA4312912 rs765090558 |
211 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1184986835 CA367839500 |
215 | H>R | No |
ClinGen TOPMed |
|
|
rs750367284 CA4312913 |
217 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367839513 rs1245666024 |
217 | E>A | No |
ClinGen gnomAD |
|
|
rs762852226 CA4312914 |
218 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 218 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751355839 CA4312916 |
219 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766170804 CA4312915 |
219 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754623264 CA4312917 |
224 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 224 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 226 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375131045 CA4312920 |
228 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1331852332 CA367839602 |
230 | G>V | No |
ClinGen gnomAD |
|
|
CA367839628 rs1282596453 |
234 | N>I | No |
ClinGen TOPMed |
|
|
rs1227557585 CA367839641 |
236 | G>D | No |
ClinGen gnomAD |
|
|
CA161015001 rs377640959 |
236 | G>S | No |
ClinGen gnomAD |
|
|
CA4312922 rs201083715 |
237 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4312923 rs771390532 |
238 | S>N | No |
ClinGen ExAC |
|
|
CA367839657 rs1207804913 |
239 | T>A | No |
ClinGen gnomAD |
|
|
CA4312924 rs373423707 |
239 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 240 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs12673343 CA4312926 CA367839673 |
241 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1324813880 CA367839675 |
242 | S>G | No |
ClinGen TOPMed |
|
|
rs1223213966 CA367839677 |
242 | S>N | No |
ClinGen gnomAD |
|
|
CA367839680 rs775692272 |
242 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61998250 CA4312928 |
243 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1189735931 CA367839697 |
245 | T>S | No |
ClinGen gnomAD |
|
|
CA367839703 rs1392524440 |
246 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA161015012 rs933956162 |
247 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1162980376 CA367839712 |
248 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 249 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4312929 rs774995655 |
250 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774995655 CA161015016 |
250 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 251 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367839735 rs1423708009 |
251 | W>S | No |
ClinGen TOPMed |
|
|
rs376989979 CA4312930 |
253 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367839762 rs1387970883 |
255 | F>S | No |
ClinGen gnomAD |
|
|
rs1051122230 CA161015020 |
255 | F>V | No |
ClinGen TOPMed |
|
|
CA367839771 rs1248347396 |
256 | F>Y | No |
ClinGen TOPMed |
|
|
rs774163024 CA4312950 |
262 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs897425531 CA161017096 |
263 | A>T | No |
ClinGen TOPMed |
|
|
CA4312951 rs759615826 |
264 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1440677408 CA367840193 |
265 | N>K | No |
ClinGen Ensembl |
|
|
rs1343568800 CA367840205 |
267 | I>L | No |
ClinGen gnomAD |
|
|
rs1200363703 CA367840211 |
267 | I>T | No |
ClinGen gnomAD |
|
|
rs1444525653 CA367840248 |
270 | S>L | No |
ClinGen gnomAD |
|
|
CA367840282 rs1289913983 |
273 | T>S | No |
ClinGen TOPMed |
|
|
CA161017103 rs1045402380 |
279 | S>C | No |
ClinGen Ensembl |
|
|
rs767408880 CA4312952 |
280 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA161017106 rs906892872 |
281 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4312954 rs201907528 |
285 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367840414 rs1421488371 |
286 | V>D | No |
ClinGen TOPMed |
|
|
CA161017112 rs1034305054 |
286 | V>I | No |
ClinGen TOPMed |
|
|
rs1263254560 CA367840425 |
287 | K>T | No |
ClinGen TOPMed |
|
|
rs763675811 CA4312955 |
288 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 289 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764866568 CA4312959 |
289 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4312957 rs375949234 |
289 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764866568 CA4312958 |
289 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758950839 CA4312960 |
290 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780362374 CA4312961 |
293 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4312962 rs367743132 |
294 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781287451 CA4312964 |
295 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs769762092 CA4312966 |
296 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA4312967 rs773401003 |
296 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4312968 rs745779028 |
299 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4312969 rs772176287 |
299 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA4312970 rs775375328 |
300 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA367840595 rs1274346897 |
302 | T>A | No |
ClinGen gnomAD |
|
|
rs570568488 CA4312971 |
302 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763733718 CA4312972 |
303 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367840615 rs1432694341 |
304 | R>* | No |
ClinGen gnomAD |
|
|
rs368157181 CA4312973 |
304 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436502429 CA367840648 |
307 | E>A | No |
ClinGen gnomAD |
|
|
CA4312974 rs761582191 |
308 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs749971460 CA4312976 |
309 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA367840705 rs1562950677 |
312 | T>P | No |
ClinGen Ensembl |
|
|
rs1462237299 CA367840717 |
313 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 313 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371596554 CA4312977 |
313 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs116706701 CA4312978 |
314 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116706701 CA4312979 |
314 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA161008401 rs894259526 |
325 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4312998 rs138344763 |
328 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1267346459 CA367841462 |
331 | S>F | No |
ClinGen gnomAD |
|
|
rs756251181 CA4313001 |
332 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 335 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4313002 rs778153603 |
335 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247361295 CA367841497 |
337 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1188107573 CA367841540 |
340 | P>L | No |
ClinGen gnomAD |
|
|
CA367841527 rs1465241423 |
340 | P>T | No |
ClinGen gnomAD |
|
|
rs576576769 CA4313003 |
341 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757406395 CA4313004 |
342 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4313005 rs779191585 |
343 | G>V | No |
ClinGen ExAC |
|
|
CA367841571 rs1459842640 |
344 | Y>H | No |
ClinGen TOPMed |
|
|
rs544133591 CA161008416 |
345 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs999082819 CA161008418 |
347 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA367841606 rs1455199409 |
347 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1157684887 CA367841614 |
348 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4313006 rs370027222 |
348 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA161008421 rs370027222 |
348 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372691512 CA367841633 |
349 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4313008 rs372691512 |
349 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367841640 rs747994137 |
349 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4313007 rs372691512 |
349 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1378861966 CA367841676 |
352 | R>G | No |
ClinGen gnomAD |
|
|
rs376962020 CA4313010 |
353 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs559299935 CA4313011 |
354 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367841712 rs1315140096 |
354 | S>T | No |
ClinGen gnomAD |
|
|
rs1227869613 CA367841763 |
356 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA161008433 rs369408811 |
358 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs369408811 CA367841787 |
358 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs750635974 CA4313012 |
359 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1028389825 CA367841799 |
359 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA367841811 rs1387538200 |
360 | N>D | No |
ClinGen TOPMed |
|
|
rs1217819132 CA367841819 |
360 | N>S | No |
ClinGen gnomAD |
|
|
rs953769485 CA161008439 |
361 | R>G | No |
ClinGen gnomAD |
|
|
rs182350515 CA4313013 |
361 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs182350515 CA367841834 |
361 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4313015 rs759931627 |
362 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA367841885 rs1471402595 |
364 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752955673 CA4313017 |
365 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367841920 rs372001885 |
365 | H>Q | No |
ClinGen gnomAD |
|
|
rs752955673 CA367841917 |
365 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412038318 CA367841906 |
365 | H>Y | No |
ClinGen gnomAD |
|
|
CA367841970 rs1359043113 |
368 | K>R | No |
ClinGen gnomAD |
|
|
CA367841990 rs1442642264 |
369 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 370 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA161008450 rs867811640 |
371 | P>H | No |
ClinGen Ensembl |
|
| rs750408762 | 374 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4313042 rs750408762 |
374 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229248348 CA367843153 |
374 | D>V | No |
ClinGen TOPMed |
|
|
CA4313043 rs368376693 |
375 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1422001966 CA367843171 |
376 | P>S | No |
ClinGen gnomAD |
|
|
rs766439900 CA4313044 |
377 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs752669737 CA4313045 |
378 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA367843211 rs1322886493 |
380 | T>S | No |
ClinGen gnomAD |
|
|
rs1362873796 CA367843234 |
382 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs375263249 CA4313047 |
383 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4313048 rs749115591 |
383 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4313049 rs199608889 |
385 | R>C | Variant assessed as Somatic; 0.0001393 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199608889 CA161009945 |
385 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs745573606 CA4313051 |
385 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199608889 CA4313050 |
385 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs376417272 CA161009949 |
386 | C>S | No |
ClinGen ESP TOPMed |
|
|
CA367843284 rs1199578410 |
387 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4313052 rs771597484 |
388 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1214945595 CA367843302 |
388 | S>N | No |
ClinGen gnomAD |
|
|
CA161009952 rs901071465 |
392 | D>E | No |
ClinGen Ensembl |
|
|
rs998131624 CA161009954 |
393 | S>Y | No |
ClinGen Ensembl |
|
|
CA367843393 rs1246727325 |
396 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 400 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 405 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747486641 CA4313055 |
407 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1434864713 CA367844061 |
409 | D>E | No |
ClinGen TOPMed |
|
|
rs192586041 CA4313057 |
415 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1156950553 CA367844140 |
416 | C>W | No |
ClinGen gnomAD |
|
|
rs1030356858 CA161009969 |
417 | H>R | No |
ClinGen TOPMed |
|
|
rs1386451652 CA367844178 |
420 | C>F | No |
ClinGen gnomAD |
|
|
rs1460106309 CA367844188 |
422 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4313059 rs765305947 |
424 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1318784477 CA367844208 |
425 | D>N | No |
ClinGen gnomAD |
|
|
CA367844231 rs1445475654 |
428 | N>D | No |
ClinGen gnomAD |
|
|
CA367844238 rs1283243980 |
429 | H>N | No |
ClinGen gnomAD |
|
|
rs1181093228 CA367844256 |
431 | I>N | No |
ClinGen gnomAD |
|
|
CA4313061 rs372785475 COSM1731653 |
431 | I>V | NS [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs201299569 CA4313062 |
433 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425533016 CA367844274 |
434 | C>R | No |
ClinGen gnomAD |
|
|
CA4313063 rs199506255 |
434 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199506255 CA4313064 |
434 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367844296 rs1329129465 |
437 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 440 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1017986938 CA161009983 |
441 | D>G | No |
ClinGen TOPMed |
|
|
rs972067970 CA161009980 |
441 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 441 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764042805 CA4313065 |
442 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1562959457 CA367844332 |
442 | D>N | No |
ClinGen Ensembl |
|
|
rs1168206579 CA367844337 |
443 | P>S | No |
ClinGen gnomAD |
|
|
rs373851989 CA4313067 |
445 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373851989 CA161009991 |
445 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753572758 CA4313066 |
445 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA367844363 rs1258493030 |
446 | Q>H | No |
ClinGen gnomAD |
|
|
CA367844532 rs1584768644 |
447 | S>I | No |
ClinGen Ensembl |
|
|
rs1251290353 CA367844541 |
448 | H>Y | No |
ClinGen gnomAD |
|
|
CA4313084 rs771091656 |
452 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA4313085 rs774367847 |
452 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1171832968 CA367844626 |
454 | S>G | No |
ClinGen gnomAD |
|
|
CA4313087 rs763952934 |
454 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780884391 CA161012039 |
455 | S>Y | No |
ClinGen gnomAD |
|
|
rs1386105316 CA367844665 |
457 | P>S | No |
ClinGen TOPMed |
|
|
CA367844717 rs1163090957 |
461 | K>E | No |
ClinGen TOPMed |
|
|
rs1369494427 CA367844766 |
464 | A>G | No |
ClinGen gnomAD |
|
|
rs376761717 CA4313088 |
465 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4313089 rs761788058 |
467 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA4313091 rs750214626 |
470 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199712378 CA4313092 |
477 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199712378 CA4313093 |
477 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4313094 rs751043578 |
479 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA367845021 rs1481078262 |
483 | S>G | No |
ClinGen gnomAD |
|
|
rs780910902 CA4313096 |
485 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 489 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4313111 rs762657549 |
491 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA367845308 rs1260752171 |
493 | H>R | No |
ClinGen gnomAD |
|
|
CA367845320 rs1428791650 |
494 | I>V | No |
ClinGen gnomAD |
|
|
rs960752661 CA161012568 |
497 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1366304232 CA367845376 |
498 | G>* | No |
ClinGen gnomAD |
|
| TCGA novel | 498 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 500 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421985329 CA367845426 |
501 | I>N | No |
ClinGen TOPMed |
|
|
rs766340315 CA367845463 |
504 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4313112 rs766340315 |
504 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA161012574 rs1023602678 |
506 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4313114 rs754729211 |
507 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4313116 rs767108828 |
508 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367845530 rs1457237280 |
509 | I>T | No |
ClinGen TOPMed |
|
|
rs752290529 CA367845550 |
511 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968074494 CA161012581 |
511 | G>D | No |
ClinGen Ensembl |
|
|
rs752290529 CA4313117 |
511 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1310863664 CA367845577 |
513 | T>N | No |
ClinGen gnomAD |
|
|
rs1340027281 CA367845634 |
518 | R>* | No |
ClinGen gnomAD |
|
|
rs1234050279 CA367845636 |
518 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 519 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756596285 CA4313118 |
520 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367845665 rs1426549864 |
521 | Q>E | No |
ClinGen gnomAD |
|
|
CA367845682 rs1217568120 |
522 | A>S | No |
ClinGen TOPMed |
|
|
rs778156544 CA4313119 |
523 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs566004990 CA4313121 |
524 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1260036323 CA367845707 |
524 | D>G | No |
ClinGen gnomAD |
|
|
CA367845759 rs1379273795 |
528 | L>F | No |
ClinGen TOPMed |
|
|
CA4313122 rs779297201 |
529 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 530 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367845791 rs1253720649 |
531 | H>D | No |
ClinGen gnomAD |
|
|
rs1446783162 CA367845797 |
531 | H>P | No |
ClinGen TOPMed |
|
|
CA367845793 rs1253720649 |
531 | H>Y | No |
ClinGen gnomAD |
|
|
CA367845838 rs1398725276 |
534 | S>L | No |
ClinGen TOPMed |
|
|
rs1474667419 CA367845873 |
537 | Y>C | No |
ClinGen gnomAD |
|
|
CA367845896 rs1188103796 |
539 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4313123 rs746056579 |
541 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1377870336 CA367845954 |
543 | S>C | No |
ClinGen TOPMed |
|
|
rs772311684 CA4313124 |
546 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775498317 CA4313125 |
547 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA367846002 rs1360171729 |
547 | V>I | No |
ClinGen gnomAD |
|
|
CA161012594 rs377318256 |
550 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377318256 CA4313126 |
550 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769701520 CA4313127 |
550 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1296671426 CA367846058 |
552 | M>V | No |
ClinGen gnomAD |
|
|
CA4313128 rs773015961 |
554 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367846087 rs1381666413 |
554 | I>V | No |
ClinGen TOPMed |
|
|
rs1295246931 CA367846098 |
555 | I>L | No |
ClinGen gnomAD |
|
|
CA4313129 rs534923265 |
555 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367846132 rs1236226946 |
557 | F>S | No |
ClinGen TOPMed |
|
|
CA161012600 rs935521364 |
557 | F>V | No |
ClinGen Ensembl |
|
|
rs1317437776 CA367846163 |
560 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA367846169 rs1217745366 |
560 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA367846176 rs774330191 |
561 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4313131 rs774330191 |
561 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 563 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367846214 rs1259116745 |
564 | V>A | No |
ClinGen gnomAD |
|
|
rs1310156053 CA367846279 |
568 | F>L | No |
ClinGen TOPMed |
|
| rs775426168 | 570 | L>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239449278 CA367846320 |
571 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 573 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 576 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 580 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774201076 CA161012676 |
581 | R>* | No |
ClinGen gnomAD |
|
|
CA367846631 rs1416887064 |
587 | L>V | No |
ClinGen gnomAD |
|
|
rs373669745 CA4313156 |
590 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367846718 rs1337096860 |
593 | S>F | No |
ClinGen gnomAD |
|
|
CA367846773 rs1213596161 |
598 | R>* | No |
ClinGen gnomAD |
|
|
CA161012682 rs985873254 |
598 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 601 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386779216 CA367846815 |
601 | E>V | No |
ClinGen TOPMed |
|
|
CA367846828 rs1562970211 |
602 | V>D | No |
ClinGen Ensembl |
|
|
rs750716728 CA4313159 |
602 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 603 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA161012690 rs1036001283 |
604 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1033313324 CA161012695 |
606 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4313162 rs532099050 |
609 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755272126 CA4313163 |
609 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424127507 CA367846916 |
610 | V>I | No |
ClinGen TOPMed |
|
|
CA367846939 rs1421843089 |
613 | I>V | No |
ClinGen gnomAD |
|
|
rs770937740 CA4313166 |
620 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1393718835 CA367846990 |
620 | R>H | No |
ClinGen gnomAD |
|
|
CA367847004 rs1461874984 |
622 | Y>C | No |
ClinGen gnomAD |
|
|
CA367847035 rs1584781140 |
625 | R>C | No |
ClinGen Ensembl |
|
|
CA4313179 rs763497275 |
625 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 626 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199985778 CA4313180 |
630 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4313181 rs751987641 |
630 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367847087 rs1584781190 |
634 | V>I | No |
ClinGen Ensembl |
|
|
CA161013075 rs1018484544 |
639 | A>V | No |
ClinGen Ensembl |
|
|
rs752758780 CA4313184 |
643 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs555394984 CA4313185 |
644 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4313186 rs778059316 |
645 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1179673599 CA367847183 |
649 | I>F | No |
ClinGen gnomAD |
|
|
CA367847192 rs1308323313 |
650 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367847208 rs1362062294 |
652 | A>G | No |
ClinGen gnomAD |
|
|
rs764239937 CA4313205 |
656 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764239937 CA367847246 |
656 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753986766 CA4313206 |
658 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367847263 rs200726377 |
659 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4313207 rs200726377 |
659 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA161014595 rs200726377 |
659 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs559476833 CA4313208 |
663 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs117514950 CA161014597 |
664 | C>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1225553025 CA367847300 |
664 | C>S | No |
ClinGen gnomAD |
|
|
rs1225553025 CA367847299 |
664 | C>Y | No |
ClinGen gnomAD |
|
|
CA4313210 rs754784990 |
676 | S>L | Variant assessed as Somatic; 5.056e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367847389 rs1160756636 |
676 | S>T | No |
ClinGen gnomAD |
|
|
rs772664042 CA4313214 |
678 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA161014611 rs945688166 |
679 | L>P | No |
ClinGen Ensembl |
|
|
rs1190616746 CA367847448 |
685 | V>D | No |
ClinGen gnomAD |
|
| TCGA novel | 686 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 689 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771280012 CA4313216 |
695 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA4313217 rs774917801 |
696 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1327047697 CA367847566 |
702 | L>R | No |
ClinGen gnomAD |
|
|
rs1238413248 CA367847627 |
709 | Y>F | No |
ClinGen gnomAD |
|
|
rs879183053 CA161014963 |
712 | M>I | No |
ClinGen Ensembl |
|
|
rs1562979738 CA367847665 |
714 | K>R | No |
ClinGen Ensembl |
|
|
rs751488431 CA4313227 |
720 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4313226 rs765287366 |
720 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs976987721 CA161014972 |
725 | V>M | No |
ClinGen gnomAD |
|
|
rs1163773432 CA367847795 |
733 | T>I | No |
ClinGen TOPMed |
|
|
rs1017031272 CA161014974 |
737 | K>N | No |
ClinGen Ensembl |
|
|
CA367847818 rs1259895255 |
737 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1184654574 CA367847833 |
738 | E>K | No |
ClinGen TOPMed |
|
|
rs1232388582 CA367847848 |
740 | D>N | No |
ClinGen TOPMed |
|
|
CA4313240 rs761123508 |
742 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1179670243 CA367847872 |
743 | F>C | No |
ClinGen TOPMed |
|
|
rs761987288 CA4313243 |
746 | Y>C | No |
ClinGen ExAC |
|
|
CA4313242 rs776979256 |
746 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs750497981 CA4313245 |
749 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA4313246 rs759471348 |
752 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172148528 CA367847948 |
755 | Y>H | No |
ClinGen gnomAD |
|
|
CA367847964 rs1394776804 |
757 | I>V | No |
ClinGen gnomAD |
|
|
CA367848001 rs1352856191 |
762 | I>T | No |
ClinGen gnomAD |
|
|
CA161015341 rs948302639 |
777 | N>H | No |
ClinGen Ensembl |
|
|
rs1133725 CA161015343 |
777 | N>S | No |
ClinGen Ensembl |
|
|
CA367848108 rs1319597104 |
779 | K>E | No |
ClinGen gnomAD |
|
|
rs868759136 CA161015637 |
785 | S>L | No |
ClinGen Ensembl |
No associated diseases with Q8N3S3
1 regional properties for Q8N3S3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PHTF1/2, N-terminal | 45 - 191 | IPR021980 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASKVTDAIV | WYQKKEFLSV | ATTAPGPQQV | LPGYCQCSLK | DQGLFIQCLI | GAYDQQIWEK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SVEQREIKFI | KLGLRNKPKK | TAHVKPDLID | VDLVRGSAFA | KAKPESPWTS | LTRKGIVRVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FFPFFFRWWL | QVTSKVIFFW | LLVLYLLQVA | AIVLFCSTSS | PHSIPLTEVI | GPIWLMLLLG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TVHCQIVSTR | TPKPPLSTGG | KRRRKLRKAA | HLEVHREGDG | SSTTDNTQEG | AVQNHGTSTS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HSVGTVFRDL | WHAAFFLSGS | KKAKNSIDKS | TETDNGYVSL | DGKKTVKSGE | DGIQNHEPQC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ETIRPEETAW | NTGTLRNGPS | KDTQRTITNV | SDEVSSEEGP | ETGYSLRRHV | DRTSEGVLRN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RKSHHYKKHY | PNEDAPKSGT | SCSSRCSSSR | QDSESARPES | ETEDVLWEDL | LHCAECHSSC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TSETDVENHQ | INPCVKKEYR | DDPFHQSHLP | WLHSSHPGLE | KISAIVWEGN | DCKKADMSVL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EISGMIMNRV | NSHIPGIGYQ | IFGNAVSLIL | GLTPFVFRLS | QATDLEQLTA | HSASELYVIA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FGSNEDVIVL | SMVIISFVVR | VSLVWIFFFL | LCVAERTYKQ | RLLFAKLFGH | LTSARRARKS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EVPHFRLKKV | QNIKMWLSLR | SYLKRRGPQR | SVDVIVSSAF | LLTISVVFIC | CAQLLHVHEI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FLDCHYNWEL | VIWCISLTLF | LLRFVTLGSE | TSKKYSNTSI | LLTEQINLYL | KMEKKPNKKE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ELTLVNNVLK | LATKLLKELD | SPFRLYGLTM | NPLLYNITQV | VILSAVSGVI | SDLLGFNLKL |
| WKIKS |